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Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs

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Abstract

Congenital long QT-syndrome (LQTS) is an inherited cardiac arrhythmia, which is characterized by a prolonged QT interval which predisposes to sudden cardiac death due to ventricular arrhythmias. The altered functions are based on different mutations in LQTS-associated genes. In this study, we performed a mutation analysis for the detection of 125 LQTS-associated single nucleotide polymorphisms (SNPs) focused on the genes KCNQ1, KCNH2, and SCN5A by using the SNaPshot multiplex minisequencing technique. Furthermore, we investigated 152 autopsy-negative cases from younger adults and infants, as well as samples from patients with clinically suspicion for LQTS, in which we found two types of variations.

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Author information

Authors and Affiliations

  1. Institute of Legal Medicine, University of Leipzig, Leipzig, Germany

    Edelmann J., Dreßler J. & Nastainczyk-Wulf M.

  2. Department of Forensic Medicine, Wroclaw Medical University, Wroclaw, Poland

    Dobosz T.

  3. Department of Pathophysiology, Division of Electrocardiology and Cardiovascular Diseases Prevention, Wroclaw Medical University, Wroclaw, Poland

    Sobieszczanska M.

  4. Department and Clinic of Cardiology, Wroclaw Medical University, Wroclaw, Poland

    Kawecka-Negrusz M.

Authors
  1. Edelmann J.
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Correspondence to Edelmann J..

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J., E., T., D., M., S. et al. Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs. Int J Legal Med 131, 333–338 (2017). https://doi.org/10.1007/s00414-016-1446-9

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  • DOI: https://doi.org/10.1007/s00414-016-1446-9

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